Ewout Groen
@ewout.bsky.social
Biomarkers and mRNA translation | Long-read sequencing | ASOs and gene therapy | SMA & MND research lab at UMC Utrecht | Previously University of Edinburgh | Also cycling, cats, father of 2
Reposted by Ewout Groen
In getting too excited about the front cover, I forgot to link to the actual paper 🤦♂️ Here it is: Dynamic modulation of the motor neuron translatome during developmental synapse elimination | Science Signaling www.science.org/doi/10.1126/...
Dynamic modulation of the motor neuron translatome during developmental synapse elimination
Superfluous axons are removed from muscle fibers through temporal changes in mRNA translation.
www.science.org
April 15, 2025 at 6:24 PM
In getting too excited about the front cover, I forgot to link to the actual paper 🤦♂️ Here it is: Dynamic modulation of the motor neuron translatome during developmental synapse elimination | Science Signaling www.science.org/doi/10.1126/...
🔑 Why this matters: copy-specific variation in SMN2 could help explain:
Genotype-phenotype discordance
Variable treatment response
Disease mechanisms
TL;DR it's complicated, there's more to be done - and more to come!
#SpinalMuscularAtrophy #RareDisease @nanoporetech.com #bioinformatics
[3/3]
Genotype-phenotype discordance
Variable treatment response
Disease mechanisms
TL;DR it's complicated, there's more to be done - and more to come!
#SpinalMuscularAtrophy #RareDisease @nanoporetech.com #bioinformatics
[3/3]
March 23, 2025 at 1:21 PM
🔑 Why this matters: copy-specific variation in SMN2 could help explain:
Genotype-phenotype discordance
Variable treatment response
Disease mechanisms
TL;DR it's complicated, there's more to be done - and more to come!
#SpinalMuscularAtrophy #RareDisease @nanoporetech.com #bioinformatics
[3/3]
Genotype-phenotype discordance
Variable treatment response
Disease mechanisms
TL;DR it's complicated, there's more to be done - and more to come!
#SpinalMuscularAtrophy #RareDisease @nanoporetech.com #bioinformatics
[3/3]
🧪 Using Nanopore sequencing + polyploid phasing, we analyzed individual SMN1/2 copies and their genomic environment, revealing copy-specific sequence and structural variants.
HapSMA is available via github.com/UMCUGenetics...
[2/3]
HapSMA is available via github.com/UMCUGenetics...
[2/3]
March 23, 2025 at 1:21 PM
🧪 Using Nanopore sequencing + polyploid phasing, we analyzed individual SMN1/2 copies and their genomic environment, revealing copy-specific sequence and structural variants.
HapSMA is available via github.com/UMCUGenetics...
[2/3]
HapSMA is available via github.com/UMCUGenetics...
[2/3]
Thanks for flagging it up!
March 18, 2025 at 4:20 PM
Thanks for flagging it up!
Fred approves. Or not. One never really with cats
November 17, 2024 at 5:47 PM
Fred approves. Or not. One never really with cats